AIM: To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies (CD) in 8 Chinese probands. METHODS: Eight unrelated patients with stromal corneal dystrophies were recruited in this study; all affected members were assessed by completely ophthalmologic examinations. Genomic DNA was extracted from peripheral leukocytes, 17 exons of TGFBI gene and the exon of CHST6 gene were amplified by polymerase chain reaction (PCR), sequenced directly and compared with the reference database. RESULTS: Three heterozygous mutations in TGFBI gene were identified in six patients: c. 370C>T (p.Arg124Cys) was found in exon 4 of TGFBI gene in three members, c. 371G>A (p.Arg124His) was found in one patient; c. 1663C>T (p.Arg555Trp) was found in exon 12 in other two members. In addition, four polymorphisms with the nucleotide changes rs1442, rs1054124, rs4669, and rs35151677 were found in TGFBI gene. Mutations were not identified in the rest of 2 affected individuals in TGFBI gene or CHST6 gene. CONCLUSION: Within these patients, R124C, R124H and R555W mutations were co-segregated with the disease phenotypes and were specific mutations for lattice corneal dystrophy type I (LCD I), Avellino corneal dystrophy (ACD, GCD II), granular corneal dystrophy type I (GCD I), respectively. Our study highlights the prevalence of codon 124 and codon 555 mutations in the TGFBI gene among the Chinese stromal corneal dystrophies patients.
AIM: To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies (CD) in 8 Chinese probands. METHODS: Eight unrelated patients with stromal corneal dystrophies were recruited in this study; all affected members were assessed by completely ophthalmologic examinations. Genomic DNA was extracted from peripheral leukocytes, 17 exons of TGFBI gene and the exon of CHST6 gene were amplified by polymerase chain reaction (PCR), sequenced directly and compared with the reference database. RESULTS: Three heterozygous mutations in TGFBI gene were identified in six patients: c. 370C>T (p.Arg124Cys) was found in exon 4 of TGFBI gene in three members, c. 371G>A (p.Arg124His) was found in one patient; c. 1663C>T (p.Arg555Trp) was found in exon 12 in other two members. In addition, four polymorphisms with the nucleotide changes rs1442, rs1054124, rs4669, and rs35151677 were found in TGFBI gene. Mutations were not identified in the rest of 2 affected individuals in TGFBI gene or CHST6 gene. CONCLUSION: Within these patients, R124C, R124H and R555W mutations were co-segregated with the disease phenotypes and were specific mutations for lattice corneal dystrophy type I (LCD I), Avellino corneal dystrophy (ACD, GCD II), granular corneal dystrophy type I (GCD I), respectively. Our study highlights the prevalence of codon 124 and codon 555 mutations in the TGFBI gene among the Chinese stromal corneal dystrophiespatients.
Authors: E Korvatska; F L Munier; A Djemaï; M X Wang; B Frueh; A G Chiou; S Uffer; E Ballestrazzi; R E Braunstein; R K Forster; W W Culbertson; H Boman; L Zografos; D F Schorderet Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025
Authors: Kasper Runager; Rajiv V Basaiawmoit; Taru Deva; Maria Andreasen; Zuzana Valnickova; Charlotte S Sørensen; Henrik Karring; Ida B Thøgersen; Gunna Christiansen; Jarl Underhaug; Torsten Kristensen; Niels Chr Nielsen; Gordon K Klintworth; Daniel E Otzen; Jan J Enghild Journal: J Biol Chem Date: 2010-12-06 Impact factor: 5.157
Authors: Paul C Billings; J Charles Whitbeck; Christopher S Adams; William R Abrams; Arthur J Cohen; Beatrice N Engelsberg; Pamela S Howard; Joel Rosenbloom Journal: J Biol Chem Date: 2002-05-28 Impact factor: 5.157
Authors: D F Schorderet; M Menasche; S Morand; S Bonnel; V Büchillier; D Marchant; K Auderset; C Bonny; M Abitbol; F L Munier Journal: Biochem Biophys Res Commun Date: 2000-08-02 Impact factor: 3.575
Authors: T O Akama; K Nishida; J Nakayama; H Watanabe; K Ozaki; T Nakamura; A Dota; S Kawasaki; Y Inoue; N Maeda; S Yamamoto; T Fujiwara; E J Thonar; Y Shimomura; S Kinoshita; A Tanigami; M N Fukuda Journal: Nat Genet Date: 2000-10 Impact factor: 38.330